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苯酮尿症(phenylketonuria,简称PKU)是一种遗传性苯丙氨酸代谢缺陷性疾病。1934年Flling首先发现。因病人尿中排泄大量苯丙氨酸而得名。其主要危害是造成智力低下和癫痫发作。因此,在新生儿期若能普遍进行过筛检查,可以做到早期诊断、早期治疗。为此,我们从1982年10月至83年11月在我院产科新生儿室和石家庄市妇产科医院、保定市妇幼保健院、河北医学院第二、四医院、石家庄市第一人民医院等医院产科新生儿室进行了新生儿苯酮尿症Guthrie过筛试验,共筛查新生儿8,154例,现小结于下。
Phenylketonuria (phenylketonuria, PKU for short) is a hereditary phenylalanine metabolic deficiency disease. 1934 Flling first discovered. Because of the patient’s urine excretion of a large number of phenylalanine named. The main harm is caused by mental retardation and seizures. Therefore, in the neonatal period if the screening can be conducted generally, you can do early diagnosis and early treatment. To this end, we from October 1982 to November 83 in our hospital obstetric neonatal room and the Department of Obstetrics and Gynecology Hospital of Shijiazhuang, Baoding Maternal and Child Health Hospital, Hebei Medical College, the second and fourth hospital, Shijiazhuang First People’s Hospital And other hospital obstetric neonatal room for neonatal phenylketonuria Guthrie screening test, screening a total of 8,154 newborns, are summarized in the next.